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Review

The Co-Occurrence of 22q11.2 Deletion Syndrome and Epithelial Basement Membrane Dystrophy: A Case Report and Review of the Literature

by
Marta Armentano
,
Ludovico Alisi
,
Francesca Giovannetti
,
Valeria Iannucci
,
Luca Lucchino
,
Alice Bruscolini
* and
Alessandro Lambiase
Department of Sense Organs, Sapienza University of Rome, 00185 Rome, Italy
*
Author to whom correspondence should be addressed.
Life 2024, 14(8), 1006; https://doi.org/10.3390/life14081006
Submission received: 7 June 2024 / Revised: 31 July 2024 / Accepted: 9 August 2024 / Published: 13 August 2024
(This article belongs to the Special Issue Eye Diseases: Diagnosis and Treatment, 2nd Edition)
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Abstract

Background: 22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder caused by the deletion of the q11.2 band of chromosome 22. It may affect various systems, including the cardiovascular, immunological, gastrointestinal, endocrine, and neurocognitive systems. Additionally, several ocular manifestations have been described. Results: We report a case of a 34-year-old female diagnosed with 22q11.2DS who presented with visual discomfort and foreign body sensation in both eyes. She had no history of recurrent ocular pain. A comprehensive ophthalmological examination was performed, including anterior segment optical coherence tomography and in vivo confocal microscopy. Overall, the exams revealed bilateral corneal map-like lines, dots, and fingerprint patterns, consistent with a diagnosis of epithelial basement membrane dystrophy (EBMD). In addition to presenting with this novel corneal manifestation for 22q11.2 DS, we review the ocular clinical features of 22q11.2DS in the context of our case. Conclusions: The EBMD may represent a new corneal manifestation associated with 22q11.2 syndrome, although the link between these conditions is unknown. Further research is warranted to investigate potentially shared genetic or molecular pathways to the understanding of the phenotypic variety observed among this rare syndrome.
Keywords: confocal microscopy; DiGeorge syndrome; 22q11.2 deletion syndrome; map-dot-fingerprint dystrophy; ocular rare diseases confocal microscopy; DiGeorge syndrome; 22q11.2 deletion syndrome; map-dot-fingerprint dystrophy; ocular rare diseases

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MDPI and ACS Style

Armentano, M.; Alisi, L.; Giovannetti, F.; Iannucci, V.; Lucchino, L.; Bruscolini, A.; Lambiase, A. The Co-Occurrence of 22q11.2 Deletion Syndrome and Epithelial Basement Membrane Dystrophy: A Case Report and Review of the Literature. Life 2024, 14, 1006. https://doi.org/10.3390/life14081006

AMA Style

Armentano M, Alisi L, Giovannetti F, Iannucci V, Lucchino L, Bruscolini A, Lambiase A. The Co-Occurrence of 22q11.2 Deletion Syndrome and Epithelial Basement Membrane Dystrophy: A Case Report and Review of the Literature. Life. 2024; 14(8):1006. https://doi.org/10.3390/life14081006

Chicago/Turabian Style

Armentano, Marta, Ludovico Alisi, Francesca Giovannetti, Valeria Iannucci, Luca Lucchino, Alice Bruscolini, and Alessandro Lambiase. 2024. "The Co-Occurrence of 22q11.2 Deletion Syndrome and Epithelial Basement Membrane Dystrophy: A Case Report and Review of the Literature" Life 14, no. 8: 1006. https://doi.org/10.3390/life14081006

APA Style

Armentano, M., Alisi, L., Giovannetti, F., Iannucci, V., Lucchino, L., Bruscolini, A., & Lambiase, A. (2024). The Co-Occurrence of 22q11.2 Deletion Syndrome and Epithelial Basement Membrane Dystrophy: A Case Report and Review of the Literature. Life, 14(8), 1006. https://doi.org/10.3390/life14081006

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